Hamid Azzedine
Aachen, NW 52074, Germany
Last Updated: 09/26/2026
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Found 12 publications
Leukoencephalopathy and conduction blocks in PLEKHG5-associated intermediate CMT disease.
Journal: Neuromuscular disorders : NMD
Published: February 10, 2021
Towards a functional pathology of hereditary neuropathies.
Journal: Acta neuropathologica
Published: May 12, 2016
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.
Journal: American journal of human genetics
Published: February 23, 2016
Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?
Journal: Brain and behavior
Published: November 17, 2015
Reply: Is SIGMAR1 a confirmed FTD/MND gene?
Journal: Brain : a journal of neurology
Published: June 20, 2015
Dysfunction in endoplasmic reticulum-mitochondria crosstalk underlies SIGMAR1 loss of function mediated motor neuron degeneration.
Journal: Brain : a journal of neurology
Published: February 14, 2015
Ophthalmic features of PLA2G6-related paediatric neurodegeneration with brain iron accumulation.
Journal: The British journal of ophthalmology
Published: February 14, 2014
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.
Journal: Human molecular genetics
Published: June 20, 2013
New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations.
Journal: PloS one
Published: May 11, 2013
Molecular genetics of charcot-marie-tooth disease: from genes to genomes.
Journal: Molecular syndromology
Published: January 08, 2013
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.
Journal: European journal of human genetics : EJHG
Published: January 20, 2012
Showing 1-12 of 12
Last Updated: 09/26/2026